R282X_human-collq

General

Gene Locus : No gene locus

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation Congenital myasthenic syndrome associated with endplate AChE deficiency (Type Ic).No attachment to NMJ No asymetric A12 forms Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction : Endplate Acetylcholinesterase deficiency\; EAD

Interact Gene Locus : human-collq

Xenobiotic sensitivity :

Modification : Congenital myasthenic syndrome || Natural mutation

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.Arg282X

References (2)

Title : Congenital End-Plate Acetylcholinesterase Deficiency Caused by a Nonsense Mutation and an A-->G Splice-Donor-Site Mutation at Position +3 of the Collagenlike-Tail-Subunit Gene (COLQ): How Does G at Position +3 Result in Aberrant Splicing? - Ohno_1999_Am.J.Hum.Genet_65_635
Author(s) : Ohno K , Brengman JM , Felice KJ , Cornblath DR , Engel AG
Ref : American Journal of Human Genetics , 65 :635 , 1999
Abstract :
PubMedSearch : Ohno_1999_Am.J.Hum.Genet_65_635
PubMedID: 10441569

Title : Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme - Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654
Author(s) : Ohno K , Brengman J , Tsujino A , Engel AG
Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :9654 , 1998
Abstract :
PubMedSearch : Ohno_1998_Proc.Natl.Acad.Sci.U.S.A_95_9654
PubMedID: 9689136